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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Habitual Abortions
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Accession:DOID:9007479 term browser browse the term
Definition:Three or more consecutive spontaneous abortions.
Synonyms:exact_synonym: Habitual Abortion;   RPL;   RPRGL;   Recurrent Abortion;   Recurrent Miscarriage;   Recurrent Miscarriages;   recurrent abortions;   recurrent embryonic loss;   recurrent spontaneous abortion;   recurrent spontaneous abortions;   recurrent stillbirth
 related_synonym: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2;   PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3;   RPRGL1;   RPRGL2;   RPRGL3;   recurrent fetal loss, susceptibility to
 primary_id: MESH:D000026
 alt_id: OMIM:614389;   OMIM:614390;   OMIM:614391
 xref: EFO:1000954

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show annotations for term's descendants           Sort by:
Habitual Abortions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chrNW_004955428:18,873,782...18,907,955
Ensembl chrNW_004955428:18,873,782...18,907,955 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:19086990 RGD:11039490 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Asic5 acid sensing ion channel subunit family member 5 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chrNW_004955471:11,262,213...11,287,720
Ensembl chrNW_004955471:11,262,216...11,287,709 		JBrowse link
G Cbx3 chromobox 3 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955410:28,042,627...28,052,616
Ensembl chrNW_004955410:28,043,110...28,052,616 		JBrowse link
G Ccdc68 coiled-coil domain containing 68 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955402:39,426,158...39,493,655
Ensembl chrNW_004955402:39,423,316...39,493,809 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 ClinVar NCBI chrNW_004955543:1,377,932...1,444,327 JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004955458:3,555,603...3,561,063
Ensembl chrNW_004955458:3,555,603...3,562,120 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004955437:6,254,638...6,261,278
Ensembl chrNW_004955437:6,254,309...6,261,479 		JBrowse link
G Cenph centromere protein H ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955446:131,703...135,873 JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30100398 NCBI chrNW_004955410:29,982,965...30,371,861
Ensembl chrNW_004955410:29,986,492...30,371,861 		JBrowse link
G F2 coagulation factor II, thrombin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 ClinVar
OMIM		 PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chrNW_004955422:1,356,675...1,367,788
Ensembl chrNW_004955422:1,356,769...1,367,517 		JBrowse link
G F5 coagulation factor V susceptibility ISO ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO ClinVar
OMIM		 PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038060 NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar PMID:16414944 PMID:22581653 PMID:25741868 PMID:34398675 NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs: :677C>T, 1298A>C (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:19906129 PMID:22047507 PMID:22882325 RGD:10449404 RGD:10449411 RGD:10449415 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G Pif1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955450:10,722,570...10,729,852
Ensembl chrNW_004955450:10,722,016...10,727,565 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 ClinVar NCBI chrNW_004955411:5,988,100...6,434,369
Ensembl chrNW_004955411:5,990,316...6,432,301 		JBrowse link
G Plk1 polo like kinase 1 ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955493:2,206,353...2,217,231
Ensembl chrNW_004955493:2,206,353...2,217,231 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Recurrent spontaneous abortion ClinVar NCBI chrNW_004955513:2,745,220...2,754,927
Ensembl chrNW_004955513:2,745,842...2,752,792 		JBrowse link
G Sycp3 synaptonemal complex protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19110213 NCBI chrNW_004955405:37,093,330...37,102,789
Ensembl chrNW_004955405:37,093,652...37,102,856 		JBrowse link
G Thbd thrombomodulin susceptibility ISO DNA:SNP: :1418C>T (human) RGD PMID:23954867 RGD:11038683 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14196
    disease of anatomical entity 13851
      Urogenital Diseases 4408
        Female Urogenital Diseases and Pregnancy Complications 2204
          Pregnancy Complications 677
            Spontaneous Abortions 135
              Habitual Abortions 21
                cervical incompetence 0
paths to the root